Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly

N. Kölble, J. Wisser, D. Babcock, C. Maslen, R. Huch, B. Steinmann

    Research output: Contribution to journalArticle

    11 Scopus citations

    Abstract

    Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.

    Original languageEnglish (US)
    Pages (from-to)395-399
    Number of pages5
    JournalUltrasound in Obstetrics and Gynecology
    Volume20
    Issue number4
    DOIs
    StatePublished - Nov 12 2002

    Keywords

    • Congenital contractural arachnodactyly (CCA)
    • Fibrillin-2 (FBN2) gene
    • Prenatal diagnosis
    • Ultrasound

    ASJC Scopus subject areas

    • Radiological and Ultrasound Technology
    • Reproductive Medicine
    • Radiology Nuclear Medicine and imaging
    • Obstetrics and Gynecology

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